Primary Myelofibrosis (PMF) is a chronic, malignant hematological disease, characterized
by leukoerythroblastic blood picture, anisopoikilocytosis teardrop-shaped erythrocyte,
different degree of bone marrow fibrosis and hepatosplenomegaly due to extramedullary
hematopoiesis. Among genetic specificities of the disease, those that stand out are
chromosomal aberrations in pathological, myeloid blood cells and point mutation V617F
in the JAK2 gene.
The main goal of study was to examine karyotype and cytogenetic parameters and
presence of JAK2V617F mutation in the genome of patients with de novo PMF. Additionally,
other diagnostic parameters, their mutual correlations and their effect on cumulative
survival rate of patients were examined.
Karyotype analysis was performed by conventional cytogenetic method. Allelespecific
PCR was used to detect the JAK2V617F mutation. The study used descriptive and
analytical statistical methods.
By retrospective analysis of cytogenetic results that included

61 patients, abnormal
karyotype was registered in 41% of them. Specific PMF aberrations that were found are :
13q-, 20q-, +8, but also aberrations that are rarely present in this disease.
Prospective study included 144 patients. The frequency of chromosomal aberrations
was tested, so as the frequency of JAK2V617F mutation, their mutual correlation and
correlation with clinical and hemato-laboratory parameters. Chromosomal aberrations
were present in 29% of patients. Of specific aberrations for PMF, the most common was trisomy
of chromosome 9, then 13q-and 20q-. JAK2V617F mutation was registered in 55% of
patients. Examining the correlation between mutation and type of karyotype and mutation
and chromosomal aberrations with various risk level, statistically significant difference was
not registered (p=0.153).
Examining the importance of clinical and hematological parameters, difference was
registered in survival of patients with different prognostic groups applying Lille, Cervantes,
IPSS, DIPSS prognostic systems (PSs) (for all p<0.001), Mayo PS for all patients (p=0.001) and Mayo PS for younger patients (p=0.013)...